A40V (p.Ala40Val) variant of IL2RA (P01589)
A40V (p.Ala40Val) in IL2RA (P01589) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- TOPMed rs1839477323
- gnomAD rs1839477323
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.15
- CADD 2.88
- PolyPhen-2 0.05
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available